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Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB

Mutations in the endothelial cell (EC) tyrosine kinase receptor TIE2 cause inherited and sporadic forms of venous malformation. The recurrent somatic mutation L914F and common germline mutation R849W differ in terms of phosphorylation level, as well as sub-cellular localization and trafficking of th...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Uebelhoer, Melanie, Nätynki, Marjut, Kangas, Jaakko, Mendola, Antonella, Nguyen, Ha-Long, Soblet, Julie, Godfraind, Catherine, Boon, Laurence M., Eklund, Lauri, Limaye, Nisha, Vikkula, Miikka
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2013
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3736867/
https://ncbi.nlm.nih.gov/pubmed/23633549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt198
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